Knome, Inc, a Cambridge, Massachusetts company, is famously known for sequencing the genome of hard-living rocker Ozzy Osbourne. Knome bills itself as “the human genome interpretation company” and is credited for being the first to offer personal sequencing services.
So, when scientists from John Hopkins reported earlier this week that personal DNA sequencing fails to powerfully predict disease risk, the company got a lot of calls.
Nathan Pearson, Knome’s research director, shared the stage with Ozzy and Sharon Ozbourne for a 2010 TEDMed talk. So he should be on the defensive. But, he’s not. In a Wednesday interview in Knome’s office in a former furniture factory, Pearson echoed some of the same criticisms that have emerged since the Hopkins twin-study paper hit the news wires earlier this week.
“Anyone who told you that whole genome sequencing is going to be a silver bullet of medicine would have been pulling your leg. That would be an irresponsible disservice to the public to say that – and to ourselves as scientists. “
Instead he offered that, “genomically personalized healthcare is really integrative.”
“The thinking is that the whole genome will take the place beside more conventional cornerstones of care,” he said. “Face to face doctor vists. Family history. Lab tests. All of that will continue to be essential. Whole genomes will not replace any of those. They will compliment them.”
From a business point of view, Pearson said, overselling the predictive power of personal genetics won’t do his company any good. Eventually, funders will figure it out and stop paying for the work.
“It is important for us to accurately state what genomic data can tell us about health.”
That said, he has some concerns about the Hopkins study. One – it is old news. Another caveat he said, is that many of the 24 diseases the researchers looked at were cancers.
“We’ve known for a long time that cancer tends to be less genetically heritable than other diseases,” he said. “It’s not surprising that cancer comes in trailing the list of diseases…in terms of predictability.”
Pearson, like others say the study fails to address the anomalies of twin studies – like the impact of environment. Pearson also has problems with the way the study was publicized. While the results were widely reported in the press, the paper was not available to those who didn’t want to pay for it. (Late yesterday, Pearson said that publisher of the paper — Science Translational Medicine — had dropped their paywall for this study. )
The story makes a big splash,” he said. “They are rehashing old knowledge and yet it propagates quickly ion the blogosphere…Scientific arguments are often made in the media as much as through the literature.’’
The Hopkins paper adds to that literature, but is too early to draw conclusion about the predictive power of personal genentics, he said.
“We still understand too little about how the frequency and distribution of disease variants — and their effect on disease risk to make precise model that accurately reflect biological reality.
Until science gets closer to that point, Pearson said speculation on the links between disease and the genome is premature.
“I’m not saying they shouldn’t have published,” he said. “We’ve got to start trying (to explore the genome-disease link) and in some cases, people are faulting these guys for taking a stab. Now there are number up on the board, so let’s continue going forward and see if they are right or wrong. That’s science, right?”